참고문헌
- Miller RW, Fraumeni JF Jr, Manning MD. Association of wilms's tumor with aniridia, hemihypertrophy and other congenital malformations. N Engl J Med 1964;270:922-7. https://doi.org/10.1056/NEJM196404302701802
- Rose EA, Glaser T, Jones C, Smith CL, Lewis WH, Call KM, et al. Complete physical map of the WAGR region of 11p13 localizes a candidate Wilms' tumor gene. Cell 1990;60:495-508. https://doi.org/10.1016/0092-8674(90)90600-J
- Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M. WAGR syndrome: a clinical review of 54 cases. Pediatrics 2005;116:984-8. https://doi.org/10.1542/peds.2004-0467
- Almind GJ, Brondum-Nielsen K, Bangsgaard R, Baekgaard P, Gronskov K. 11p microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report. Mol Cytogenet 2009;2:6. https://doi.org/10.1186/1755-8166-2-6
- Gronskov K, Olsen JH, Sand A, Pedersen W, Carlsen N, Bak Jylling AM, et al. Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. Hum Genet 2001;109:11-8. https://doi.org/10.1007/s004390100529
- Min KS, Baek HJ, Han DK, You JH, Hwang TJ, Kwon DD, et al. Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome: successful treatment of the first case with bilateral Wilms' tumors in Korea. Korean J Pediatr 2008;51:1355-8. https://doi.org/10.3345/kjp.2008.51.12.1355
- Xu S, Han JC, Morales A, Menzie CM, Williams K, Fan YS. Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism. Cytogenet Genome Res 2008;122:181-7. https://doi.org/10.1159/000172086
- Breslow NE, Collins AJ, Ritchey ML, Grigoriev YA, Peterson SM, Green DM. End stage renal disease in patients with Wilms tumor: results from the National Wilms Tumor Study Group and the United States Renal Data System. J Urol 2005;174:1972-5. https://doi.org/10.1097/01.ju.0000176800.00994.3a
- Pelletier J, Bruening W, Li FP, Haber DA, Glaser T, Housman DE. WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour. Nature 1991;353:431-4. https://doi.org/10.1038/353431a0
- Chao LY, Huff V, Strong LC, Saunders GF. Mutation in the PAX6 gene in twenty patients with aniridia. Hum Mutat 2000;15:332-9. https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<332::AID-HUMU5>3.0.CO;2-1
- Pritchard-Jones K, Fleming S, Davidson D, Bickmore W, Porteous D, Gosden C, et al. The candidate Wilms' tumour gene is involved in genitourinary development. Nature 1990;346:194-7. https://doi.org/10.1038/346194a0
- Xu PX, Zhang X, Heaney S, Yoon A, Michelson AM, Maas RL. Regulation of Pax6 expression is conserved between mice and flies. Development 1999;126:383-95.
- Pinna A, Carta A, Mannazzu MC, Dore S, Balata A, Carta F. WAGR syndrome with deletion of chromosome 11p11.2-13. J AAPOS 2004;8:396-7. https://doi.org/10.1016/j.jaapos.2004.05.008
- Han JC, Liu QR, Jones M, Levinn RL, Menzie CM, Jefferson-George KS, et al. Brain-derived neurotrophic factor and obesity in the WAGR syndrome. N Engl J Med 2008;359:918-27. https://doi.org/10.1056/NEJMoa0801119